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autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
MIM.164008 14q13
Thursday 26 January 2006
Synopsis
chronic diarrhea
recurrent bronchopneumonitis
hepatosplenomegaly
failure to thrive
Gram-positive and Gram-negative pyogenic bacteria infections
dry skin, rough skin
sparse scalp hair
conical teeth
Etiology
germline mutations in gene NFKBIA (MIM.164008) at 14q13
Refererences
Courtois G, Smahi A, Reichenbach J, Doffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israel A, Munnich A, Le Deist F, Casanova JL. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 2003 Oct;112(7):1108-15. PMID: 14523047
Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. PMID: 12351572
